ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.808G>A (p.Ala270Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002419427 SCV002678506 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-12 criteria provided, single submitter clinical testing The p.A270T variant (also known as c.808G>A), located in coding exon 8 of the CDC73 gene, results from a G to A substitution at nucleotide position 808. The alanine at codon 270 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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